DISEASES

Disease-gene associations mined from literature

Literature associating SCIN and Waterhouse-Friderichsen syndrome

SCIN [ENSP00000297029]

Adseverin; Ca(2+)-dependent actin filament-severing protein that has a regulatory function in exocytosis by affecting the organization of the microfilament network underneath the plasma membrane. Severing activity is inhibited by phosphatidylinositol 4,5-bis-phosphate (PIP2) (By similarity). In vitro, also has barbed end capping and nucleating activities in the presence of Ca(2+). Required for megakaryocyte differentiation, maturation, polyploidization and apoptosis with the release of platelet-like particles. Plays a role in osteoclastogenesis (OCG) and actin cytoskeletal organization in osteoclasts (By similarity). Regulates chondrocyte proliferation and differentiation (By similarity). Inhibits cell proliferation and tumorigenesis. Signaling is mediated by MAPK, p38 and JNK pathways; Belongs to the villin/gelsolin family.

Synonyms:  SCIN,  C9JGB6,  E5RHN8,  E5RHX6,  F8WBX5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM